STXBP2 (syntaxin binding protein 2)

Gene

• Entrez ID: 6813
• Gene name: Syntaxin binding protein 2
• Gene symbol: STXBP2
• Synonyms (NCBI Gene): FHL5, Hunc18b, MUNC18-2, UNC18-2, UNC18B, pp10122, unc-18B
• Chromosome: 19
• Chromosome location: 19p13.2
• Summary: This gene encodes a member of the STXBP/unc-18/SEC1 family. The encoded protein is involved in intracellular trafficking, control of SNARE (soluble NSF attachment protein receptor) complex assembly, and the release of cytotoxic granules by natural killer

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs61736587	G>A,T	Pathogenic-likely-pathogenic, pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant, downstream transcript variant, non coding transcript variant
rs121918540	C>T	Pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant, downstream transcript variant, non coding transcript variant
rs121918541	T>A,C	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs140148806	G>C	Pathogenic	Genic downstream transcript variant, downstream transcript variant, splice acceptor variant
rs148868283	G>A	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, downstream transcript variant, non coding transcript variant, synonymous variant, coding sequence variant
rs370053399	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant, non coding transcript variant
rs756948868	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant, non coding transcript variant
rs773360200	G>A,C	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs1555768979	T>G	Pathogenic	Splice donor variant
rs1555769166	TG>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1568463402	G>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1599395085	T>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1599397070	CCCCTTCCGG>GA	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1599398298	GAT>-	Pathogenic	Non coding transcript variant, coding sequence variant, inframe deletion

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT020657	hsa-miR-155-5p	Proteomics	18668040
MIRT668356	hsa-miR-6890-3p	HITS-CLIP	23824327
MIRT668355	hsa-miR-5693	HITS-CLIP	23824327
MIRT668354	hsa-miR-6741-3p	HITS-CLIP	23824327
MIRT668353	hsa-miR-1304-3p	HITS-CLIP	23824327
MIRT668352	hsa-miR-1307-3p	HITS-CLIP	23824327
MIRT668351	hsa-miR-4638-5p	HITS-CLIP	23824327
MIRT668350	hsa-miR-2276-3p	HITS-CLIP	23824327
MIRT668349	hsa-miR-6499-3p	HITS-CLIP	23824327
MIRT668348	hsa-miR-3135b	HITS-CLIP	23824327
MIRT668347	hsa-miR-504-3p	HITS-CLIP	23824327
MIRT668346	hsa-miR-122-5p	HITS-CLIP	23824327
MIRT668345	hsa-miR-6789-3p	HITS-CLIP	23824327
MIRT668344	hsa-miR-566	HITS-CLIP	23824327
MIRT668343	hsa-miR-4284	HITS-CLIP	23824327
MIRT668342	hsa-miR-3652	HITS-CLIP	23824327
MIRT668341	hsa-miR-4430	HITS-CLIP	23824327
MIRT668340	hsa-miR-4449	HITS-CLIP	23824327
MIRT668339	hsa-miR-143-5p	HITS-CLIP	23824327
MIRT668338	hsa-miR-5698	HITS-CLIP	23824327
MIRT658150	hsa-miR-532-5p	HITS-CLIP	23824327
MIRT658149	hsa-miR-877-3p	HITS-CLIP	23824327
MIRT658148	hsa-miR-1248	HITS-CLIP	23824327
MIRT658147	hsa-miR-130b-5p	HITS-CLIP	23824327
MIRT658146	hsa-miR-4778-3p	HITS-CLIP	23824327
MIRT658145	hsa-miR-4297	HITS-CLIP	23824327
MIRT658144	hsa-miR-5581-5p	HITS-CLIP	23824327
MIRT658143	hsa-miR-7111-3p	HITS-CLIP	23824327
MIRT658142	hsa-miR-6780a-3p	HITS-CLIP	23824327
MIRT658141	hsa-miR-6881-3p	HITS-CLIP	23824327
MIRT658140	hsa-miR-6875-3p	HITS-CLIP	23824327
MIRT658139	hsa-miR-3674	HITS-CLIP	23824327
MIRT658138	hsa-miR-5096	HITS-CLIP	23824327
MIRT543273	hsa-miR-7844-5p	PAR-CLIP	21572407
MIRT543274	hsa-miR-205-3p	PAR-CLIP	21572407
MIRT543272	hsa-miR-3613-3p	PAR-CLIP	21572407
MIRT543271	hsa-miR-138-2-3p	PAR-CLIP	21572407
MIRT543270	hsa-miR-33a-5p	PAR-CLIP	21572407
MIRT543269	hsa-miR-33b-5p	PAR-CLIP	21572407
MIRT543268	hsa-miR-607	PAR-CLIP	21572407
MIRT441430	hsa-miR-141-3p	PAR-CLIP	22100165
MIRT441429	hsa-miR-200a-3p	PAR-CLIP	22100165
MIRT441428	hsa-miR-365a-3p	PAR-CLIP	22100165
MIRT441427	hsa-miR-365b-3p	PAR-CLIP	22100165
MIRT441426	hsa-miR-4480	PAR-CLIP	22100165
MIRT441425	hsa-miR-374a-5p	PAR-CLIP	22100165
MIRT441424	hsa-miR-374b-5p	PAR-CLIP	22100165
MIRT441430	hsa-miR-141-3p	PAR-CLIP	22100165
MIRT441429	hsa-miR-200a-3p	PAR-CLIP	22100165
MIRT441428	hsa-miR-365a-3p	PAR-CLIP	22100165
MIRT441427	hsa-miR-365b-3p	PAR-CLIP	22100165
MIRT441426	hsa-miR-4480	PAR-CLIP	22100165
MIRT441425	hsa-miR-374a-5p	PAR-CLIP	22100165
MIRT441424	hsa-miR-374b-5p	PAR-CLIP	22100165
MIRT668356	hsa-miR-6890-3p	HITS-CLIP	23824327
MIRT668355	hsa-miR-5693	HITS-CLIP	23824327
MIRT668354	hsa-miR-6741-3p	HITS-CLIP	23824327
MIRT668353	hsa-miR-1304-3p	HITS-CLIP	23824327
MIRT668352	hsa-miR-1307-3p	HITS-CLIP	23824327
MIRT668351	hsa-miR-4638-5p	HITS-CLIP	23824327
MIRT668350	hsa-miR-2276-3p	HITS-CLIP	23824327
MIRT668349	hsa-miR-6499-3p	HITS-CLIP	23824327
MIRT668348	hsa-miR-3135b	HITS-CLIP	23824327
MIRT668347	hsa-miR-504-3p	HITS-CLIP	23824327
MIRT668346	hsa-miR-122-5p	HITS-CLIP	23824327
MIRT668345	hsa-miR-6789-3p	HITS-CLIP	23824327
MIRT668344	hsa-miR-566	HITS-CLIP	23824327
MIRT668343	hsa-miR-4284	HITS-CLIP	23824327
MIRT668342	hsa-miR-3652	HITS-CLIP	23824327
MIRT668341	hsa-miR-4430	HITS-CLIP	23824327
MIRT668340	hsa-miR-4449	HITS-CLIP	23824327
MIRT668339	hsa-miR-143-5p	HITS-CLIP	23824327
MIRT668338	hsa-miR-5698	HITS-CLIP	23824327
MIRT658150	hsa-miR-532-5p	HITS-CLIP	23824327
MIRT658149	hsa-miR-877-3p	HITS-CLIP	23824327
MIRT658148	hsa-miR-1248	HITS-CLIP	23824327
MIRT658147	hsa-miR-130b-5p	HITS-CLIP	23824327
MIRT658146	hsa-miR-4778-3p	HITS-CLIP	23824327
MIRT658145	hsa-miR-4297	HITS-CLIP	23824327
MIRT658144	hsa-miR-5581-5p	HITS-CLIP	23824327
MIRT658143	hsa-miR-7111-3p	HITS-CLIP	23824327
MIRT658142	hsa-miR-6780a-3p	HITS-CLIP	23824327
MIRT658141	hsa-miR-6881-3p	HITS-CLIP	23824327
MIRT658140	hsa-miR-6875-3p	HITS-CLIP	23824327
MIRT658139	hsa-miR-3674	HITS-CLIP	23824327
MIRT658138	hsa-miR-5096	HITS-CLIP	23824327
MIRT543273	hsa-miR-7844-5p	PAR-CLIP	21572407
MIRT543274	hsa-miR-205-3p	PAR-CLIP	21572407
MIRT543272	hsa-miR-3613-3p	PAR-CLIP	21572407
MIRT543271	hsa-miR-138-2-3p	PAR-CLIP	21572407
MIRT543270	hsa-miR-33a-5p	PAR-CLIP	21572407
MIRT543269	hsa-miR-33b-5p	PAR-CLIP	21572407
MIRT543268	hsa-miR-607	PAR-CLIP	21572407
MIRT441430	hsa-miR-141-3p	PAR-CLIP	22100165
MIRT441429	hsa-miR-200a-3p	PAR-CLIP	22100165
MIRT441428	hsa-miR-365a-3p	PAR-CLIP	22100165
MIRT441427	hsa-miR-365b-3p	PAR-CLIP	22100165
MIRT441426	hsa-miR-4480	PAR-CLIP	22100165
MIRT441425	hsa-miR-374a-5p	PAR-CLIP	22100165
MIRT441424	hsa-miR-374b-5p	PAR-CLIP	22100165
MIRT441430	hsa-miR-141-3p	PAR-CLIP	22100165
MIRT441429	hsa-miR-200a-3p	PAR-CLIP	22100165
MIRT441428	hsa-miR-365a-3p	PAR-CLIP	22100165
MIRT441427	hsa-miR-365b-3p	PAR-CLIP	22100165
MIRT441426	hsa-miR-4480	PAR-CLIP	22100165
MIRT441425	hsa-miR-374a-5p	PAR-CLIP	22100165
MIRT441424	hsa-miR-374b-5p	PAR-CLIP	22100165

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001909	Process	Leukocyte mediated cytotoxicity	IMP	19884660
GO:0005515	Function	Protein binding	IPI	19804848, 19884660, 33961781
GO:0005576	Component	Extracellular region	TAS
GO:0005829	Component	Cytosol	IDA	18588921
GO:0005829	Component	Cytosol	TAS
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	18588921
GO:0005886	Component	Plasma membrane	IEA
GO:0006886	Process	Intracellular protein transport	IBA
GO:0006887	Process	Exocytosis	IEA
GO:0006887	Process	Exocytosis	IEA
GO:0006904	Process	Vesicle docking involved in exocytosis	IBA
GO:0015031	Process	Protein transport	IEA
GO:0016192	Process	Vesicle-mediated transport	IEA
GO:0016324	Component	Apical plasma membrane	IEA
GO:0017075	Function	Syntaxin-1 binding	IBA
GO:0017075	Function	Syntaxin-1 binding	IEA
GO:0019905	Function	Syntaxin binding	IEA
GO:0030141	Component	Secretory granule	IBA
GO:0030141	Component	Secretory granule	IEA
GO:0030348	Function	Syntaxin-3 binding	IBA
GO:0030348	Function	Syntaxin-3 binding	IEA
GO:0030348	Function	Syntaxin-3 binding	IPI	18588921
GO:0042581	Component	Specific granule	IDA	18588921
GO:0042582	Component	Azurophil granule	IDA	18588921
GO:0042589	Component	Zymogen granule membrane	IEA
GO:0043304	Process	Regulation of mast cell degranulation	ISS
GO:0043312	Process	Neutrophil degranulation	IEP	18588921
GO:0044194	Component	Cytolytic granule	IDA	19804848
GO:0045055	Process	Regulated exocytosis	IEA
GO:0045335	Component	Phagocytic vesicle	IEA
GO:0070062	Component	Extracellular exosome	HDA	11487543, 19056867, 23533145
GO:0070820	Component	Tertiary granule	IDA	18588921
GO:0071346	Process	Cellular response to type II interferon	IEA
GO:0098793	Component	Presynapse	IEA
GO:0099525	Process	Presynaptic dense core vesicle exocytosis	IBA

Other IDs

• MIM: 601717
• HGNC: 11445
• e!Ensembl: ENSG00000076944

Protein

• UniProt ID: Q15833
• Protein name: Syntaxin-binding protein 2 (Protein unc-18 homolog 2) (Unc18-2) (Protein unc-18 homolog B) (Unc-18B)
• Protein function: Involved in intracellular vesicle trafficking and vesicle fusion with membranes. Contributes to the granule exocytosis machinery through interaction with soluble N-ethylmaleimide-sensitive factor attachment protein receptor (SNARE) proteins that
• PDB: 4CCA
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00995	Sec1	29 → 579	Sec1 family	Family

• Tissue specificity: TISSUE SPECIFICITY: Placenta, lung, liver, kidney and pancreas, as well as in peripheral blood lymphocytes.
• Sequence:

  MAPSGLKAVVGEKILSGVIRSVKKDGEWKVLIMDHPSMRILSSCCKMSDILAEGITIVED
  INKRREPIPSLEAIYLLSPTEKSVQALIKDFQGTPTFTYKAAHIFFTDTCPEPLFSELGR
  SRLAKVVKTLKEIHLAFLPYEAQVFSLDAPHSTYNLYCPFRAEERTRQLEVLAQQIATLC
  ATLQEYPAIRYRKGPEDTAQLAHAVLAKLNAFKADTPSLGEGPEKTRSQLLIMDRAADPV
  SPLLHELTFQAMAYDLLDIEQDTYRYETTGLSEAREKAVLLDEDDDLWVELRHMHIADVS
  KKVTELLRTFCESKRLTTDKANIKDLSQILKKMPQYQKELNKYSTHLHLADDCMKHFKGS
  VEKLCSVEQDLAMGSDAEGEKIKDSMKLIVPVLLDAAVPAYDKIRVLLLYILLRNGVSEE
  NLAKLIQHANVQAHSSLIRNLEQLGGTVTNPGGSGTSSRLEPRERMEPTYQLSRWTPVIK
  DVMEDAVEDRLDRNLWPFVSDPAPTASSQAAVSARFGHWHKNKAGIEARAGPRLIVYVMG
  GVAMSEMRAAYEVTRATEGKWEVLIGSSHILTPTRFLDDLKALDKKLEDIALP

• Sequence length: 593

Pathways

Reactome:

Platelet degranulation
Other interleukin signaling

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Autoinflammatory syndrome	Pathogenic; Likely pathogenic	rs140148806, rs61736587	RCV002263594 RCV002262571	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Colon adenocarcinoma	Pathogenic	rs140148806	RCV005894885	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Familial hemophagocytic lymphohistiocytosis	Likely pathogenic; Pathogenic	rs768725365, rs769717341, rs753879238, rs773917703, rs765763103, rs121918540, rs1467430023, rs140148806, rs61736587, rs773360200, rs141717050, rs921624651	RCV003317508 RCV005432870 RCV005409073 RCV004801217 RCV005930626 RCV005430925 RCV003995122 RCV000351372 RCV003226166 RCV003226346 RCV002509538 RCV002307673	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Familial hemophagocytic lymphohistiocytosis 5	Pathogenic; Likely pathogenic	rs2031907358, rs768725365, rs2146226413, rs2031844309, rs760061071, rs769717341, rs2146220482, rs753879238, rs1158166238, rs2146216115, rs2512707947, rs773917703, rs779558314, rs2512700296, rs765763103, rs773360200, rs2031932785, rs2512700357, rs953725612, rs2512698714, rs1290991040, rs2512691552, rs373462454, rs759657187, rs121918540, rs1599398298, rs2512691704, rs2512706058, rs1288484218, rs1261060049, rs2512695145, rs772141641, rs2512715110, rs2512706226, rs2512692673, rs2512700824, rs1599389041, rs747556765, rs2512697088, rs2512691573, rs768288230, rs1157060069, rs2032173863, rs2512683140, rs772962304, rs921624651, rs2512697589, rs2512706203, rs2512691738, rs2512705792, rs2512700288, rs2512707857, rs2512708025, rs201649843, rs2512691532, rs2512700352, rs2512700267, rs2512711277, rs2146208184, rs2032088471, rs2512699658, rs1269457253, rs898350077, rs2512711110, rs2512700995, rs753205026, rs776024035, rs2512711496, rs2032173917, rs2512684973, rs2512695846, rs992368305, rs140148806, rs61736587, rs1555768979, rs1555769166, rs1568463402, rs141717050, rs1217060412	RCV001330339 RCV001542460 RCV001542461 RCV002047773 RCV001939413 RCV001942091 RCV001871443 RCV001884165 RCV001975105 RCV001916445 RCV002288388 RCV004571166 RCV003041346 RCV002603661 RCV002628666 RCV002576777 RCV002781272 RCV002791434 RCV002885452 RCV002872291 RCV002931913 RCV002971596 RCV003011797 RCV003059549 RCV000008308 RCV000008309 RCV003466423 RCV003463581 RCV003463582 RCV003463583 RCV003463584 RCV003463585 RCV003463586 RCV003463587 RCV003463589 RCV003463590 RCV003464653 RCV003464654 RCV003464655 RCV003464656 RCV003466424 RCV003466425 RCV003466426 RCV003466428 RCV003464657 RCV003530440 RCV003530927 RCV003531049 RCV003531051 RCV003531112 RCV003531046 RCV003531077 RCV003530959 RCV003530960 RCV003531209 RCV003531312 RCV003645414 RCV003645402 RCV003645450 RCV003645606 RCV003645802 RCV003645803 RCV003645849 RCV003645787 RCV003644566 RCV003644630 RCV003644799 RCV003837407 RCV003881390 RCV004555789 RCV004573682 RCV004573683 RCV004573684 RCV004573685 RCV000700702 RCV000024317 RCV003464116 RCV000647331 RCV000647328 RCV000684854 RCV000793904 RCV001063093 RCV001221186 RCV001244298	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 5, WITHOUT MICROVILLUS INCLUSION DISEASE	Pathogenic	rs1599395085, rs2146217813, rs140148806	RCV000008312 RCV000008313 RCV001613072	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Lung cancer	Pathogenic	rs140148806	RCV005894888	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Malignant tumor of urinary bladder	Pathogenic	rs140148806	RCV005894886	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
STXBP2-related disorder	Pathogenic; Likely pathogenic	rs121918540, rs61736587	RCV003924815 RCV003398562	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Thyroid cancer, nonmedullary, 1	Pathogenic	rs140148806	RCV005894887	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Abnormal bleeding	association; Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Acute myeloid leukemia	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Adrenocortical carcinoma, hereditary	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BLOOD PLATELET DISORDERS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CAROTID ARTERY THROMBOSIS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign; Likely benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL LACTIC ACIDOSIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL HEMOPHAGOCYTIC LYMPHOCYTOSIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 5	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 5, WITH OR WITHOUT MICROVILLUS INCLUSION DISEASE	—	HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMORRHAGE	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MICROVILLUS INCLUSION DISEASE	—	Disgenet, GenCC Disgenet, GenCC	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 12	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thrombocytopenia	association; Conflicting classifications of pathogenicity; Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Thymoma	Benign; Likely benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Agammaglobulinemia	Agammaglobulinemia	Pubtator	20558610	Associate	★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	BEFREE	26320718		★☆☆☆☆ Found in Text Mining only
Arthritis Juvenile	Juvenile arthritis	Pubtator	25047945	Associate	★☆☆☆☆ Found in Text Mining only
Autoimmune Chronic Hepatitis	Autoimmune hepatitis	BEFREE	25491289		★☆☆☆☆ Found in Text Mining only
Blood Coagulation Disorders	Blood Coagulation Disorders	BEFREE	23382066		★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	Pubtator	35672673	Associate	★☆☆☆☆ Found in Text Mining only
Cholestasis	Cholelithiasis	Pubtator	33162974	Associate	★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	Pubtator	20558610	Associate	★☆☆☆☆ Found in Text Mining only
Diarrhea	Diarrhea	Pubtator	22451424	Associate	★☆☆☆☆ Found in Text Mining only
Familial hemophagocytic lymphohistiocytosis	Hemophagocytic Lymphohistiocytosis	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hemophagocytic lymphohistiocytosis familial 4	Hemophagocytic lymphohistiocytosis	Pubtator	24910990	Associate	★☆☆☆☆ Found in Text Mining only
Hemophagocytic Lymphohistiocytosis Familial 5	Hemophagocytic lymphohistiocytosis	Pubtator	19804848, 20558610, 20798128, 22451424, 22791290, 22796692, 23687090, 26320718, 31651895, 33162974, 33593331	Associate	★☆☆☆☆ Found in Text Mining only
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 5	Hemophagocytic Lymphohistiocytosis	CLINVAR_DG	19804848, 19884660, 20558610, 20798128, 20823128, 22451424, 23382066, 23687090, 24194549, 27577878, 28353193		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 5	Hemophagocytic Lymphohistiocytosis	GENOMICS_ENGLAND_DG	19804848, 20798128, 24827398		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 5	Hemophagocytic Lymphohistiocytosis	UNIPROT_DG	19804848, 19884660		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 5	Hemophagocytic Lymphohistiocytosis	BEFREE	26451869		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 5	Hemophagocytic Lymphohistiocytosis	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hemorrhage	Hemorrhage	Pubtator	28399723	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Histiocytosis haematophagic	Histiocytosis Haematophagic	BEFREE	26320718		★☆☆☆☆ Found in Text Mining only
Histiocytosis haematophagic	Histiocytosis Haematophagic	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin disease	Pubtator	23100279	Associate	★☆☆☆☆ Found in Text Mining only
Intestinal Diseases	Intestinal Diseases	BEFREE	28724787		★☆☆☆☆ Found in Text Mining only
Juvenile arthritis	Arthritis	BEFREE	25047945		★☆☆☆☆ Found in Text Mining only
Leukemia Lymphoid	Lymphoid leukemia	Pubtator	29599780	Associate	★☆☆☆☆ Found in Text Mining only
Lymphohistiocytosis Hemophagocytic	Hemophagocytic lymphohistiocytosis	Pubtator	19804848, 19884660, 20558610, 20798128, 20823128, 21152410, 21881043, 22451424, 22796692, 23100279, 23287865, 24916509, 25233452, 25312756, 25564401, 26771955, 27209435, 27513731, 28270454, 28399723, 28468610, 29599780, 29649976, 29783935, 31651895, 32076423, 32375849, 32517705, 32542393, 33162974, 33746956, 34630398	Associate	★☆☆☆☆ Found in Text Mining only
Lymphohistiocytosis, Hemophagocytic	Lymphohistiocytosis	BEFREE	20558610, 21881043, 25564401, 27513731, 28353193, 30782130, 31807395		★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	Pubtator	20823128, 23100279	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma	Lymphoma	BEFREE	23100279		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Macrophage Activation Syndrome	Macrophage Activation Syndrome	BEFREE	25047945		★☆☆☆☆ Found in Text Mining only
Microvillus inclusion disease	Microvillus inclusion disease	Pubtator	26553929	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microvillus inclusion disease	Microvillus Inclusion Disease	BEFREE	28724787		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myocardial Infarction	Myocardial Infarction	BEFREE	28380445		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial infarction	Pubtator	28380445	Associate	★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	26381267, 28086916	Associate	★☆☆☆☆ Found in Text Mining only
Primary immune deficiency disorder	immunodeficiency	BEFREE	26771955		★☆☆☆☆ Found in Text Mining only